91 citations
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May 2003 in “American Journal of Pathology” This study found that prolactin and its receptor are expressed in the murine hair follicle epithelium, influencing hair cycle phases by down-regulating keratinocyte proliferation during anagen and inducing premature catagen.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
21 citations
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June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
7 citations
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January 2021 in “Evidence-based complementary and alternative medicine” This study suggests that porphyra-334 may have antiaging properties, promoting collagen synthesis, improving periorbital wrinkles, and supporting hair follicle growth through gene regulation.
7 citations
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October 2018 in “BMC genomics” This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
4 citations
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May 2025 in “npj Parkinson s Disease” This study identified peripheral myeloid cells as the earliest dysregulated immune cells in PINK1 KO mice with Parkinson’s-like symptoms following intestinal infections, suggesting that PINK1 regulates gut immune functions linked to early Parkinson’s disease mechanisms.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
1 citations
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December 2022 in “Biomolecules & therapeutics” This study found that a long-term astrocyte culture model can effectively study astrocyte senescence and suggests minoxidil as a potential candidate to regulate brain aging by normalizing dysregulated gene expression in aged astrocytes.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” This study highlights how combining genetic and environmental risk assessments could advance early screening and personalized prevention for vitiligo, given its genetic complexity and environmental interactions.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
January 2026 in “Animal Advances” In this study of four Chinese goat breeds, black goats exhibited significantly higher melanin content, while Inner Mongolian cashmere goats had longer fiber lengths. These findings highlight genetic variations in coat color and fiber length, informing future breeding programs.
January 2024 in “Wiadomości Lekarskie” In this study, researchers at the Laboratory of Regenerative Medicine WUM are exploring the long-term effects of SARS-CoV-19 infection, focusing on stem cell mobilization and engraftment processes, and utilizing advanced diagnostic techniques to develop algorithms for rare disease classification, including amyloidosis.
July 2023 in “Frontiers in veterinary science” In this study, researchers analyzed skin samples from Dorper sheep to identify 395 differentially expressed long non-coding RNAs (lncRNAs) linked to hair follicle growth phases, suggesting these lncRNAs may play a role in the regulation of hair shedding through pathways like estrogen and PI3K-Akt signaling.
March 2023 in “Clinical, cosmetic and investigational dermatology” This study suggests that IL-33 promotes hair follicle changes and T cell infiltration in psoriatic mice and humans, contributing to psoriatic alopecia.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
April 2018 in “Journal of Investigative Dermatology” This study found that external light can rapidly activate hair follicle stem cells in animals via a retinal light-sensing pathway linked to the central and autonomic nervous systems.
April 2018 in “Journal of Investigative Dermatology” In this study, the authors identified a role for hair follicles in regulating the formation and sympathetic innervation of arrector pili muscles, influencing hair follicle stem cell activity and potentially explaining hair loss associated with beta-blockers and androgenic alopecia.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
19 citations
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April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
7 citations
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July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
78 citations
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February 2011 in “Canadian Medical Association Journal” This introduction highlights the impact of acne vulgaris on quality of life and the complexity of selecting effective treatments, but it presents no new clinical results.
17 citations
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March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
June 2024 in “Computational and Structural Biotechnology Journal” This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.